MCID: PRC045
MIFTS: 18

Preeclampsia/eclampsia 5

Categories: Genetic diseases

Aliases & Classifications for Preeclampsia/eclampsia 5

MalaCards integrated aliases for Preeclampsia/eclampsia 5:

Name: Preeclampsia/eclampsia 5 53 28 13 69
Pee5 53 71
Gestational Proteinuric Hypertension 71
Pre-Eclampsia/eclampsia 5 71

Characteristics:

HPO:

31
preeclampsia/eclampsia 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614595
MedGen 39 C3281288
UMLS 69 C3281288

Summaries for Preeclampsia/eclampsia 5

UniProtKB/Swiss-Prot : 71 Pre-eclampsia/eclampsia 5: A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide.

MalaCards based summary : Preeclampsia/eclampsia 5, also known as pee5, is related to preeclampsia/eclampsia 4 and pre-eclampsia, and has symptoms including eclampsia and preeclampsia. An important gene associated with Preeclampsia/eclampsia 5 is CORIN (Corin, Serine Peptidase).

Description from OMIM: 614595

Related Diseases for Preeclampsia/eclampsia 5

Diseases in the Preeclampsia/eclampsia 1 family:

Preeclampsia/eclampsia 2 Preeclampsia/eclampsia 3
Preeclampsia/eclampsia 4 Preeclampsia/eclampsia 5

Diseases related to Preeclampsia/eclampsia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 preeclampsia/eclampsia 4 11.6
2 pre-eclampsia 11.6
3 preeclampsia/eclampsia 1 11.2
4 beckwith-wiedemann syndrome 9.9
5 eclampsia 9.9

Graphical network of the top 20 diseases related to Preeclampsia/eclampsia 5:



Diseases related to Preeclampsia/eclampsia 5

Symptoms & Phenotypes for Preeclampsia/eclampsia 5

Clinical features from OMIM:

614595

Human phenotypes related to Preeclampsia/eclampsia 5:

31
# Description HPO Frequency HPO Source Accession
1 eclampsia 31 HP:0100601
2 preeclampsia 31 HP:0100602

Drugs & Therapeutics for Preeclampsia/eclampsia 5

Search Clinical Trials , NIH Clinical Center for Preeclampsia/eclampsia 5

Genetic Tests for Preeclampsia/eclampsia 5

Genetic tests related to Preeclampsia/eclampsia 5:

# Genetic test Affiliating Genes
1 Preeclampsia/eclampsia 5 28 CORIN

Anatomical Context for Preeclampsia/eclampsia 5

Publications for Preeclampsia/eclampsia 5

Articles related to Preeclampsia/eclampsia 5:

# Title Authors Year
1
Histochemical evaluation of placental angiotensinase A in pre-eclampsia: enzyme activity in villous trophoblast indicates an enhanced likelihood of gestational proteinuric hypertension. ( 8730885 )
1996
2
Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension. ( 8159359 )
1994

Variations for Preeclampsia/eclampsia 5

UniProtKB/Swiss-Prot genetic disease variations for Preeclampsia/eclampsia 5:

71
# Symbol AA change Variation ID SNP ID
1 CORIN p.Lys317Glu VAR_067795 rs387906894
2 CORIN p.Ser472Gly VAR_067797 rs387906895

ClinVar genetic disease variations for Preeclampsia/eclampsia 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CORIN NM_006587.3(CORIN): c.949A> G (p.Lys317Glu) single nucleotide variant Pathogenic rs387906894 GRCh37 Chromosome 4, 47685820: 47685820
2 CORIN NM_006587.3(CORIN): c.1414A> G (p.Ser472Gly) single nucleotide variant Pathogenic rs387906895 GRCh37 Chromosome 4, 47667224: 47667224

Expression for Preeclampsia/eclampsia 5

Search GEO for disease gene expression data for Preeclampsia/eclampsia 5.

Pathways for Preeclampsia/eclampsia 5

GO Terms for Preeclampsia/eclampsia 5

Sources for Preeclampsia/eclampsia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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